Characterization of large deletions in the F8 gene using multiple competitive amplification and the genome walking technique-Reference-Cited by-同舟云学术

Characterization of large deletions in the F8 gene using multiple competitive amplification and the genome walking technique

Published:2013-06 Issue:6 Volume:11 Page:1103-1110
ISSN:1538-7933
Container-title:Journal of Thrombosis and Haemostasis
language:en
Short-container-title:J Thromb Haemost

Author:

You G. L.¹,Ding Q. L.²,Lu Y. L.²,Dai J.²,Xi X. D.¹,Wang X. F.²,Wang H. L.¹

Affiliation:

1. State Key Laboratory of Medical Genomics; Shanghai Institute of Hematology; Ruijin Hospital; Shanghai Jiaotong University School of Medicine; Shanghai China

2. Department of Laboratory Medicine; Ruijin Hospital; Shanghai Jiaotong University School of Medicine; Shanghai China

Funder

National Basic Research Program of China

Ministry of Health

Publisher

Wiley

Subject

Hematology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jth.12205/fullpdf

Reference31 articles.

1. The life cycle of coagulation factor VIII in view of its structure and function;Lenting;Blood,1998

2. Characterization of the human factor VIII gene;Gitschier;Nature,1984

3. F8 gene mutation type and inhibitor development in patients with severe hemophilia A: systematic review and meta-analysis;Gouw;Blood,2012

4. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A;Lakich;Nat Genet,1993

5. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A;Bagnall;Blood,2002

Cited by 26 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Whole F8 gene sequencing identified pathogenic structural variants in the remaining unsolved patients with severe hemophilia A;Journal of Thrombosis and Haemostasis;2024-06

2. Tandem and inverted duplications in haemophilia A: Breakpoint characterisation provides insight into possible rearrangement mechanisms;Haemophilia;2023-05-16

3. Comprehensive analysis of F8 large deletions: Characterization of full breakpoint junctions and description of a possible DNA breakage hotspot in intron 6;Journal of Thrombosis and Haemostasis;2022-10

4. Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A;Haemophilia;2021-09-04

5. A large deletion, spanning exons 1 to 25 of F8 gene, and a high‐titer factor VIII inhibitor, in severe hemophilia A;International Journal of Laboratory Hematology;2020-03-03